Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.
Arm ; Child ; Chromosome Aberrations ; Chromosomes, Human, Pair 5 ; Comparative Genomic Hybridization ; Diagnosis ; Epilepsy ; Genetic Counseling ; Humans ; Intellectual Disability* ; Korea ; Male* ; Methods ; Microarray Analysis ; Phenotype

PURPOSE: The neonatal (NMR) or infant mortality rate (IMR) in South Korea is lower than that in the United States. We aimed to investigate the contributing factors to this difference in mortality rates. METHODS: The study populations consisted of five groups, namely group A, comprising live births in South Korea during 2009-2011 (n=1,383,806), and groups B (live births to Korean parents, n=107,309), C (Caucasian births, n=31,588,183), D (African-origin, n=4,381,664), and E (all live births, n=49,384,187) comprising various US live births during 2000-2011. Maternal characteristics, birth outcomes, and mortality rates in these five groups were compared according to birth weight (BW) and gestational age (GA). RESULTS: Maternal characteristics such as BW distribution and very low and low BW rates among infants in South Korea and those in the United States were quite similar. Both rates were significantly lower among the Korean live births than among Caucasian and African-origin live births in the United States. However, the mortality rates of these small birth weight groups were significantly higher in the Korean infants born in South Korea than in those born in the United States, or in Caucasian and African-origin infants born in the United States. Similar results were noted when analyzed according to gestational age. CONCLUSIONS: The NMR or IMR in South Korea is lower than that in the United States, primarily due to the overwhelming favorable BW and GA distribution, despite the lower BW- and GA-specific survival rates in the live births in South Korea than in the United States.
Birth Weight ; Continental Population Groups ; Gestational Age ; Humans ; Infant ; Infant Mortality* ; Infant* ; Korea ; Live Birth ; Mortality ; Parents ; Parturition ; Survival Rate ; United States*

Bickerstaff's brainstem encephalitis is characterized by ophthalmoplegia, ataxia, and disturbance of consciousness. It is similar to Miller Fisher syndrome, a variant of Guillain-Barre syndrome, in that they share features such as ophthalmoplegia and ataxia. The difference is that patients with Bickerstaff's brainstem encephalitis have impaired consciousness, whereas patients with Miller Fisher syndrome have alert consciousness and areflexia. Here, we report the case of a 3-year-old child who was diagnosed with Bickerstaff's brainstem encephalitis presenting typical clinical features and interesting radiological findings. The patient showed ophthalmoplegia, ataxia, and subsequent stuporous mentality. Brain magnetic resonance imaging revealed high signal intensity in the pons and cerebellum around the 4th ventricle on a T2-weighted image. He was successfully treated with intravenous immunoglobulin. Differentiation of Bickerstaff's brainstem encephalitis and Miller Fisher syndrome is often difficult because they possess many overlapping features. Brain magnetic resonance imaging may be helpful in diagnosing Bickerstaff's brainstem encephalitis, especially when lesions are definitely found.
Ataxia ; Brain ; Brain Stem* ; Cerebellum ; Child ; Child, Preschool ; Consciousness ; Encephalitis* ; Guillain-Barre Syndrome ; Humans ; Immunoglobulins ; Magnetic Resonance Imaging ; Miller Fisher Syndrome ; Ophthalmoplegia ; Pons ; Stupor

Kawasaki disease (KD) is an immune-mediated disease which is a leading cause of acquired cardiovascular disease in developed country. Recently, tumor necrosis factor-alpha (TNF-alpha) blocker, infliximab has been considered a promising option for patients with refractory KD. Although chronic use of a TNF-alpha blocker could increase risk of opportunistic infections, a few studies have documented that use of infliximab was safe without serious adverse effects in patients with KD. We observed serious bacterial infection after infliximab treatment in an infant with refractory KD. Our patient was a 5-month-old male infant diagnosed with KD who did not respond to repeated doses of intravenous immunoglobulin. We effectively treated him with a single infusion of infliximab (5 mg/kg), but gram-negative (Acinetobacter lwoffii) septicemia developed after infliximab infusion. Therefore, we report a case of serious septicemia after treatment with infliximab, and suggest considering the risk of severe infection when deciding whether to prescribe infliximab to an infant with refractory KD.
Bacterial Infections ; Cardiovascular Diseases ; Developed Countries ; Humans ; Immunoglobulins ; Infant* ; Male ; Mucocutaneous Lymph Node Syndrome* ; Opportunistic Infections ; Sepsis* ; Tumor Necrosis Factor-alpha ; Infliximab

PURPOSE: This study investigated the pattern of hematologic profile and eosinophilia for a month after birth in very low birth weight (VLBW) infants. METHODS: The medical records of 141 VLBW infants (birth weight, <1,500 g) admitted to the neonatal intensive care unit (NICU) of Konyang University Hospital. We collected complete blood cell counts (CBC) weekly for 4 weeks and studied hematologic profile and related factors of eosinophilia (> or =700/mm3). RESULTS: Overall, 50.4% of all infants had at least one instance of eosinophilia for a month after birth. There were 50.7% with moderate eosinophilia (1,000-2,999/mm3). White blood cell (WBC) counts and absolute neutrophil count (ANC) climaxed on 7th day of life, whereas eosinophilia mainly occurred on 21st day of life. The demographic data and perinatal characteristics of infants with and without eosinophilia were compared. Prevalence of eosinophilia was associated with gestational age and total parenteral nutrition on 21st day of life; total parenteral nutrition and transfusion on 28th day of life. Eosinophilia was closely associated with transfusion on logistic regression analysis (P<0.05). CONCLUSION: Eosinophilia in VLBW infants occurs mainly on 21st day of life. Eosinophil counts showed a separate trend different from WBC counts and ANC. Transfusion was significantly associated with eosinophilia.
Blood Cell Count ; Eosinophilia ; Eosinophils ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intensive Care, Neonatal ; Leukocytes ; Logistic Models ; Medical Records ; Neutrophils ; Parenteral Nutrition, Total ; Parturition ; Prevalence

Neonatal lupus erythematosus (NLE) is a rare disease characterized by typical clinical features and the transplacental passage of maternal autoantibodies, particularly anti-SSA/Ro. The major clinical manifestations are cutaneous lupus lesions, congenital heart block, hematological disorders, and hepatobiliary diseases. We report a case of NLE presenting with multiple round and oval target-like erythematous skin lesions and abnormal liver function, born to a clinically asymptomatic mother whose diagnosis was made retrospectively only after her newborn's diagnosis. Both the infant and the mother were positive for the anti-SSA/Ro and anti-SSB/La antibodies.
Antibodies ; Autoantibodies ; Heart Block ; Humans ; Infant ; Liver ; Lupus Erythematosus, Systemic ; Mothers ; Rare Diseases ; Retrospective Studies ; Skin

PURPOSE: To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. METHODS: Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. RESULTS: A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. CONCLUSION: The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.
Birth Weight ; Central Nervous System ; Fertilization in Vitro ; Heart Diseases ; Hospitals, University ; Humans ; Hydronephrosis ; Incidence ; Infant ; Korea ; Live Birth ; Parturition ; Physical Examination ; Prognosis ; Retrospective Studies ; Single Umbilical Artery ; Umbilical Arteries ; Urogenital Abnormalities ; Urogenital System

PURPOSE: There are many causes of hematochezia in neonates and during early infancy. Cow`s milk allergy is considered to be the most common cause of bloody stools in infants; however, cow`s milk allergy is diagnosed in relatively few patients. In a significant proportion of case investigations, the etiology of hematochezia is not determined. The objectives of this study were to evaluate the clinical course and prognosis of patients with hematochezia of unknown etiology. METHODS: The patients were <4-month-old infants with hematochezia in whom infectious and surgical etiologies had been excluded. We investigate retrospectively the clinical course and laboratory finding. We also perform 2-years follow-up study and evaluate prognosis of the patients. RESULTS: In all study patients, RAST milk was negative. All patients had self-limited hematochezia. In 2-years of follow-up, the prognosis of patients was good. There were no differences at 2-year regarding allergic tendencies of the patients, as determined by the increase in total eosinophil count. CONCLUSION: Hematochezia in neonates and during early infancy is generally a benign and self-limiting symptom. Based on 2-years of follow-up, the prognosis of the patients is good.
Eosinophils ; Follow-Up Studies ; Gastrointestinal Hemorrhage ; Humans ; Infant ; Infant, Newborn ; Milk ; Milk Hypersensitivity ; Prognosis ; Retrospective Studies

PURPOSE: High-Sensitivity C-reactive protein(hs-CRP) has been recognized as a very useful and sensitive predictor of the future risk of myocardial infarction. But the clinical significance of hs-CRP in children remains uncertain. To confirm the existence of obesity-induced vascular inflammation and the association between metabolic syndromes and elevation of CRP in children, we investigated the relationship among CRP, obesity, blood pressure(BP), and serum lipids in schoolboys. METHODS: Twenty-eight obese(BMI 29.61+/-3.29 kg/m2) and 93 non-obese(BMI 18.99+/-2.21 kg/m2) boys aged 14 years were examined. Serum CRP levels was measured by the high sensitive latex turbidimetric immunoassay and subjects with CRP levels below 0.3 mg/dL were adopted to avoid the influence of acute infection. RESULTS: Obese children had significantly higher hs-CRP levels than their non-obese group(0.104+/-0.075 vs. 0.054+/-0.005 mg/dL). In the obese group, BMI, systolic blood pressure, diastolic blood pressure, apolipoprotein B, atherogenic index, and triglyceride were significantly higher than in non-obese. The BMI, diastolic blood pressure, apolipoprotein E, atherognic index, and triglyceride showed positive correlation with log CRP by simple regression. Multiple regression analysis indicated that BMI and apolipoprotein E were strongly related to CRP. CONCLUSION: This study revealed that obese children tended to have higher levels of serum hs-CRP, BP elevation and dyslipidemia than the control group and that BMI and apolipoprotein E were strongly related to CRP. These results indicate that obesity related metabolic syndrome can be developed in children.
Apolipoproteins ; Blood Pressure ; C-Reactive Protein* ; Child ; Dyslipidemias ; Humans ; Immunoassay ; Inflammation ; Latex ; Myocardial Infarction ; Obesity ; Triglycerides

PURPOSE: The aim of this study was to identify usefulness of simple oral and gastric pH measurement using pH paper on detection of symptomatic gastroesophageal reflux in neonates. METHODS: This prospective study included a total of 66 neonates born at Konyang University Hospital from June 2004 to June 2005. Each neonate's oral and gastric pH levels measured with pH paper at 6 hourly intervals. Suspected gastroesophageal refluex neonates were studied 24-hr lower esophageal pH monitoring or upper GI series and confirmed. We compared oral and gastric pH between symptomatic gastroesophageal reflux (GER) group and asymptomatic (control) group. RESULTS: GER group consist of 12 neonates and control group consist of 54 neonates. Oral and gastric pH were 5.4+/-0.6, 2.9+/-0.5 in GER group, 6.0+/-0.3, 3.9+/-0.9 in control group, the differences between two groups were significant (P<0.05). All neonates of GER group were corfirmed gastroesophageal reflux by 24-hr lower esophageal pH monitoring or upper GI series studies. Our data indicate as a predictor for significantly symptomatic gastroesophageal reflux, at oral pH 5.75, has a sensitivity 92%, specificity 89%, positive predictive value of 65%, and negative predictive value of 98%. The difference between oral and gastric pH (oral pH-gastric pH) was not significant in each group. CONCLUSION: In neonates with symptomatic gastroesophageal reflux oral and gastric pH were significantly lower than asymptomatic neonates. Oral and gastric pH were related with clinically significant symptoms of gastroesophageal reflux. We suggest that pH measurement could be a possible simple screening test of symptomatic gastroesophageal reflux.
Esophageal pH Monitoring ; Gastroesophageal Reflux* ; Humans ; Hydrogen-Ion Concentration ; Infant, Newborn* ; Mass Screening ; Prospective Studies ; Sensitivity and Specificity